when looking for a specific gene, you must be ready to go really deepsubstantial regulatory functionUCRs - ultra conserved regions across species - must mean somethingmuch to be discovered in this areaA haystack of sequencesAn iceberg of processingExpressinomegenome (record of DNA)transcriptome(record of mRNA)proteome(record of proteins)metabolome (interaction of many)epigenome(record of chemical changes in DNA and histones)regulatorome(record of genes silenced and enhaced)exonome(record of spliced mRNA)Trait of interestA decade (and more) of human genetics19771986/7199519901970s195320002006DNA structure discoveredmajor improvements in DNA sequencing techniquesfirst whole genome sequencedbacteriophage phi X174first fully automated DNA sequencing machinesHuman Genome Project launchfirst free living organism genome sequencedbacterium Haemophilus influenzae first draft of human genome publishedlast chromosome sequence published in Science99 to 20DNA vs. proteins in humans and chimpanzeesup to 99% corresponding DNAonly 20% corresponding proteins HGP, 2010"the material costs of sequencing at the time were "getting down to around about 10 cents a base", says Michael Morgan" Today, 2014this trend would've followed, 3 billion base pairs genome would cost US$ 300 millions today— if —(Knoppers, 2010)no longer thinking of "per base" cost— instead —we're rather thinking big, mega bigToday, 2014actually, no longer talking base pairs— in fact —we're talking whole genomes, and this costs ca. US$ 10 000 and lessFutureas for now, whole genome testing is unaffordable for many people— but —DNA sequencing cost drops faster than Moore's law predictstargets are set for $1000 per genome

for the most forseeable futureCost of DNA sequencingDNA sequencing: know-howTesting for diseasesAnalytical validitythe results of the test are acurate and reliableClinical validitythe results are of clinical significanceThe three criteria of useful medical testsClinical utilitythe results are ready to be utalised with clear benefit to patient's healthTesting for diseasesTypes of screeningDiagnosispatient shows symptomsPresymptomatic testspatient is asymptomatic and seems healthy, but there's a disease in the family— or —genetic test to diagnose the predicted diseasescreening for SNPschecking for CNVsdeletions and chromosome aberrationsuniparental disomyloss ofheterozygosity(Li, 2011)Voluntary genetic sequencing programs1000 GenomesPersonal Genome ProjectOverview of — genetic —companiesdeCODEme23andMeGenomedIlluminaPills with your initialsBespoke medication to maximise the treatment"Bring your ancestry to life."Human Whole-Genome sequencing - $4000Other servicesNext-generation Sequencing Technology providerPolish company founded in 2007Wide range of services. 150 - 5000 PLNdon't forget the environmentDesign and commercialisationWebsites about personal sequencingSNPedia is a wiki investigating human genetics.The Ethical, Legal and Social Implications (ELSI) Research Programwas established in 1990 as an integral part of the Human Genome Projectprogram funds and manages studies, and supports workshops, research consortia and policy conferences related to ethical, legal and social implications of genetic and genomic researchNational Human Genome Research InstitutePrivacygenetic information storagethe rights to have an insight into genetic informationscientific usage of personal genetic informationUnwanted awarenessthe right not to knowapplied also to family members who might be in the risk groupDiscriminationfamilyschoolsocietyemploymentUp to 30 percent of people prescribed the medication do not activate the drug, and may as well take sugar pills— Michael Christman, Coriell Institute for Medical Research, on clapidogrel - a heart attack medication(Mullich, 2012)AimsApplicationmaximising treatment outcomesdiminishing adverse effects of drugssaving money and timeThe two main fields arePharmacogenomicsCancer treatmentpharmaceutical companies designing drugs based on population genetics - releasing several variants of the drug to meet the most common patterns of metabolismclinics having an insight into patient's genetics prior to, often speculative, cancer treatment - e.g. saving patiens from ineffective chemotherapyIs a division of the National Institutes of HealthWas established in 1989 to carry out the role of the NIH in the International Human Genome Project

Back in the 90sPresentlots of bacteria-based replication, purification, running gels, etc. = tedious and time-consumingonly relatively small sequences (can't do the whole genome - to much work)nowadays quite obsolete'next generation sequencing'high throughput + high procedureglobal aproachcomputer-based data analysisseveral different technologies (pretty sophisticated)Gene by gene, gel by gelThe procedure got globalUnder developmentGiga precision at nano scale"FDA is concerned about the public health consequences of inaccurate results from the PGS device - the main purpose of compliance with FDA's regulatory requirements is to ensure that the tests work," -Alberto Gutierrez, director of the FDA's centre for devices and radiological healthusing nanopores in graphene (carbon single-molecule-thick membrane) or polymer membranesbasically getting it down to a single molecule being sequencedvery precise, very sophisticatedScience, afterallA plethora of study informationevery human on Earth having his or her genome sequencedthe sequences properly stored and available for scientists worldwideIMAGINEthat's a lot of information to work with - perhaps resulting in better understanding of human biologywatch the videos!(Li, 2011)Cordero, P., and Ashley, E.A. (2012). Whole-genome sequencing in personalized therapeutics. Clin. Pharmacol. Ther. 91, 1001–1009.